Tonsillar fat herniation: A novel finding in Goltz syndrome
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A 12-year-old girl presented with streaks of hyperpigmentation and skin atrophy with telangiectasia following a blaschkoid pattern soon after birth. Physical examination revealed linear, slightly depressed, reddish cribriform atrophic patches generalized distributed on her extremities, trunk and face, and linear hyperpigmented patches on her dorsal trunk. Subcutaneous fat herniation was noted on the left thigh. Streaks of papillomatous hyperkeratosis were found on her hands and feet with ridged, dysplastic nails and brachydactyly of the left fourth toe.

Examination of oral cavity showed oligodontia, enamel hypoplasia and multiple papillomatous growths on her tongue, hard palate and left tonsil. Remarkably, a soft, yellow, dome-shaped nodule, which was reminiscent of fat herniation, was present on her right tonsil. A clinical diagnosis of Goltz syndrome was made based on the characteristic clinical and histopathological features of the patient.

Goltz syndrome is a rare X-linked dominant genodermatosis affecting multiple tissues and organs of meso-ectodermal origin. It is characterized by pathognomonic skin manifestations and variable abnormalities that mainly involve eyes, teeth, nails and skeleton. Skin involvement is characterized by congenital patchy skin aplasia and pigmentary changes along the Blaschko's lines, often accompanied by telangiectasia. Papillomas may appear in any location, especially the orifices and acral sites. Another hallmark of Goltz syndrome is subcutaneous fat herniation, which is manifested as soft, yellow nodules usually found on the atrophic skin.

Interestingly, this is the first reported case of a patient with fat herniation on the tonsil. The patient in this case presented with all the five characteristic skin findings. Brachydactyly was detected, indicating a skeletal involvement. No treatment was planned for the skin lesions of the patient at the time since no complaint was reported.

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